Aliases for TLR1 Gene
Aliases for TLR1 Gene
External Ids for TLR1 Gene
- HGNC: 11847
- Entrez Gene: 7096
- Ensembl: ENSG00000174125
- OMIM: 601194
- UniProtKB: Q15399
Previous GeneCards Identifiers for TLR1 Gene
- GC04P039090
- GC04M038961
- GC04M038632
- GC04M038695
- GC04M038620
- GC04M038474
- GC04M038122
Summaries for TLR1 Gene
-
The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is ubiquitously expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulting from use of alternative polyadenylation site, and/or from alternative splicing, have been noted for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for TLR1 Gene
TLR1 (Toll Like Receptor 1) is a Protein Coding gene. Diseases associated with TLR1 include Leprosy 5 and Lyme Disease. Among its related pathways are Bacterial infections in CF airways and Toll-like receptor signaling pathway. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and transmembrane signaling receptor activity. An important paralog of this gene is TLR6.
UniProtKB/Swiss-Prot for TLR1 Gene
-
Participates in the innate immune response to microbial agents. Specifically recognizes diacylated and triacylated lipopeptides. Cooperates with TLR2 to mediate the innate immune response to bacterial lipoproteins or lipopeptides (PubMed:21078852). Forms the activation cluster TLR2:TLR1:CD14 in response to triacylated lipopeptides, this cluster triggers signaling from the cell surface and subsequently is targeted to the Golgi in a lipid-raft dependent pathway (PubMed:16880211). Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response.
-
Toll-like receptors (TLRs) are single transmembrane cell-surface receptors, which have a key role in the innate immune system. TLRs generally exist as homodimers (heterodimers have been reported) and are found on immune cells; macrophages, B lymphocytes and mast cells.
Additional gene information for TLR1 Gene
- Monarch Initiative
- Search for TLR1 at DataMed
- Search for TLR1 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TLR1 Gene
Genomics for TLR1 Gene
GeneHancer (GH) Regulatory Elements for TLR1 Gene
Promoters and enhancers for TLR1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around TLR1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for TLR1 Gene
Genomic Locations for TLR1 Gene
- chr4:38,787,555-38,856,817
- (GRCh38/hg38)
- Size:
- 69,263 bases
- Orientation:
- Minus strand
- chr4:38,792,298-38,858,438
- (GRCh37/hg19)
Genomic View for TLR1 Gene
Genes around TLR1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4p14 by Ensembl
- 4p14 by Entrez Gene
- 4p14 by HGNC
TLR1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TLR1 Gene
Proteins for TLR1 Gene
-
Protein details for TLR1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q15399-TLR1_HUMAN
- Recommended name:
- Toll-like receptor 1
- Protein Accession:
- Q15399
- D1CS39
- D1CS41
- O15452
- Q32MK3
- Q32MK4
- Q9UG90
Protein attributes for TLR1 Gene
- Size:
- 786 amino acids
- Molecular mass:
- 90291 Da
- Quaternary structure:
-
- Interacts (via extracellular domain) with TLR2. TLR2 seems to exist in heterodimers with either TLR1 or TLR6 before stimulation by the ligand. The heterodimers form bigger oligomers in response to their corresponding ligands as well as further heterotypic associations with other receptors such as CD14 and/or CD36 (PubMed:16880211, PubMed:17889651). The activation cluster TLR2:TLR1:CD14 forms in response to triacylated lipopeptides (PubMed:16880211). Binds MYD88 (via TIR domain). Interacts with CNPY3 (By similarity).
- SequenceCaution:
-
- Sequence=BAA02801.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Protein Expression for TLR1 Gene
Post-translational modifications for TLR1 Gene
No Post-translational modifications
Other Protein References for TLR1 Gene
Antibody Products
- R&D Systems Antibodies for TLR1 (TLR1)
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- Novus Biologicals Antibodies for TLR1
-
Abcam antibodies for TLR1
-
Cloud-Clone Corp. Antibodies for TLR1
- Invitrogen Antibodies for TLR1
- antibodies-online: Search results for 189 available TLR1 Antibodies ranked by validation data
- Compare Top TLR1 Antibodies
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Recommended
- 103 WB Antibodies (anti-human)
- 37 FACS Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 8 IHC (p) Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 1 Func Antibody (anti-human)
- 65 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 4 FACS Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 19 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
- 1 FACS Antibody (anti-rat)
- GeneTex TLR1 antibody for TLR1
-
Custom Antibody ServicesProSci Antibodies for TLR1
-
Santa Cruz Biotechnology (SCBT) Antibodies for TLR1
Protein Products
- R&D Systems Proteins and Enzymes for TLR1
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for TLR1
- Origene Custom Protein Services for TLR1
-
Cloud-Clone Corp. Proteins for TLR1
- Search GeneTex for Proteins for TLR1
-
Abcam proteins for TLR1
Assay Products
-
Custom Assay ServicesOriGene ELISA Kits for TLR1
-
Cloud-Clone Corp. Assay Kits for TLR1
-
Abcam assays for TLR1
No data available for DME Specific Peptides for TLR1 Gene
Domains & Families for TLR1 Gene
Gene Families for TLR1 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- CD markers
- Predicted intracellular proteins
- Predicted membrane proteins
- Predicted secreted proteins
Protein Domains for TLR1 Gene
Suggested Antigen Peptide Sequences for TLR1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q15399- Family:
-
- Belongs to the Toll-like receptor family.
Function for TLR1 Gene
Molecular function for TLR1 Gene
- GENATLAS Biochemistry:
- Drosophila transmembrane receptor Toll homolog 1,ubiquitously expressed,with at least two alternatively spliced isoforms,tissue specific,maybe involved in morphogenesis and immune defense
- UniProtKB/Swiss-Prot Function:
- Participates in the innate immune response to microbial agents. Specifically recognizes diacylated and triacylated lipopeptides. Cooperates with TLR2 to mediate the innate immune response to bacterial lipoproteins or lipopeptides (PubMed:21078852). Forms the activation cluster TLR2:TLR1:CD14 in response to triacylated lipopeptides, this cluster triggers signaling from the cell surface and subsequently is targeted to the Golgi in a lipid-raft dependent pathway (PubMed:16880211). Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response.
Phenotypes From GWAS Catalog for TLR1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004872 | receptor activity | TAS | 10426995 |
| GO:0004888 | transmembrane signaling receptor activity | NAS | 11081518 |
| GO:0005515 | protein binding | IPI | 16880211 |
| GO:0035663 | Toll-like receptor 2 binding | IPI | 16880211 |
| GO:0046982 | protein heterodimerization activity | IDA | 17889651 |
Phenotypes for TLR1 Gene
- MGI mutant phenotypes for TLR1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for TLR1:
-
- Increased viability
- Decreased hepcidin::fluc mRNA expression
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased viability in esophageal squamous lineage
- Dynamic nuclei (hole, folded or small irregular)
- Decreased NF-kappaB reporter expression
- Downregulation of Wnt pathway after Wnt3A stimulation
- Decreased viability
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for TLR1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for TLR1 gene
- Search ViGene Biosciences for TLR1
CRISPR Products
-
OriGene CRISPR knockouts for TLR1
- genomics-online: gRNA clones - Search results for 136 available TLR1 gene related products
- Overview of 136 available TLR1 gene related products
- Applied Biological Materials CRISPR for TLR1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TLR1
- GenScript: Design CRISPR guide RNA sequences for TLR1
miRNA for TLR1 Gene
- miRTarBase miRNAs that target TLR1
miRNA Products
- Search ViGene Biosciences for TLR1
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TLR1
- Browse OriGene Inhibitory RNA Products For TLR1
- genomics-online: shRNA clones - Search results for 136 available TLR1 gene related products
- Overview of 136 available TLR1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for TLR1 gene
Clone Products
- Sino Biological Human cDNA Clone for TLR1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for TLR1
- Applied Biological Materials Clones for TLR1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for TLR1
Cell Line Products
-
Horizon Cell Lines for TLR1
-
ViGene Biosciences adenoviral particle packaged cDNA for TLR1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for TLR1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for TLR1 gene
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TLR1 Gene
Localization for TLR1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TLR1 Gene
- Cell membrane; Single-pass type I membrane protein. Cytoplasmic vesicle, phagosome membrane; Single-pass type I membrane protein. Membrane raft. Golgi apparatus. Note=Does not reside in lipid rafts before stimulation but accumulates increasingly in the raft upon the presence of the microbial ligand. In response to triacylated lipoproteins, TLR2:TLR1 heterodimers are recruited in lipid rafts, this recruitment determine the intracellular targeting to the Golgi apparatus. {ECO:0000269 PubMed:16880211}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| golgi apparatus | 5 |
| extracellular | 2 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| peroxisome | 1 |
| nucleus | 1 |
| cytosol | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005794 | Golgi apparatus | IEA,IDA | 16880211 |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | TAS | 9435236 |
| GO:0016020 | membrane | NAS | 11081518 |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for TLR1 Gene
Pathways & Interactions for TLR1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activated TLR4 signalling | ||
| 2 | Diseases associated with the TLR signaling cascade | ||
| 3 | Toll-like receptor signaling pathway | ||
| 4 | Defensins |
.83
.83
|
|
| 5 | Bacterial infections in CF airways | ||
Pathways by source for TLR1 Gene
1 GeneTex pathway for TLR1 Gene
1 Cell Signaling Technology pathway for TLR1 Gene
4 BioSystems pathways for TLR1 Gene
22 Reactome pathways for TLR1 Gene
2 KEGG pathways for TLR1 Gene
3 GeneGo (Thomson Reuters) pathways for TLR1 Gene
3 R&D Systems pathways for TLR1 Gene
1 Tocris pathway for TLR1 Gene
8 Qiagen pathways for TLR1 Gene
Interacting Proteins for TLR1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001775 | cell activation | IDA | 15294986 |
| GO:0002224 | toll-like receptor signaling pathway | TAS | -- |
| GO:0002376 | immune system process | IEA | -- |
| GO:0002755 | MyD88-dependent toll-like receptor signaling pathway | TAS | -- |
| GO:0006952 | defense response | IEA | -- |
No data available for SIGNOR curated interactions for TLR1 Gene
Drugs & Compounds for TLR1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
(5) Tocris Compounds for TLR1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Imiquimod | Toll-like receptor 7 (TLR7) agonist | 99011-02-6 |
| Pam3CSK4 | TLR1/2 agonist; induces cytokine production | 112208-00-1 |
| Poly(I:C) | TLR3 agonist | 24939-03-5 |
| Resiquimod | Toll-like receptor 7 (TLR7) agonist | 144875-48-9 |
| RWJ 21757 | Toll-like receptor 7 (TLR7) agonist | 121288-39-9 |
(9) ApexBio Compounds for TLR1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| CU CPT 22 | 1416324-85-0 | |
| CU CPT 4a | 1279713-77-7 | |
| Pam2CSK4 | 868247-72-7 | |
| Pam2CSK4 Biotin | ||
| Pam3CSK4 | 112208-00-1 | |
| Pam3CSK4 Biotin | ||
| Poly(I:C) | 24939-03-5 | |
| RWJ 21757 | 121288-39-9 | |
| Toll-like receptor modulator | TLR antagonist | 926927-42-6 |
Transcripts for TLR1 Gene
mRNA/cDNA for TLR1 Gene
- (8) REFSEQ mRNAs :
- (20) Additional mRNA sequences :
- (37) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for TLR1
- genomics-online: gRNA clones - Search results for 136 available TLR1 gene related products
- Overview of 136 available TLR1 gene related products
- Applied Biological Materials CRISPR for TLR1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TLR1
- GenScript: Design CRISPR guide RNA sequences for TLR1
miRNA Products
- Search ViGene Biosciences for TLR1
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TLR1
- Browse OriGene Inhibitory RNA Products For TLR1
- genomics-online: shRNA clones - Search results for 136 available TLR1 gene related products
- Overview of 136 available TLR1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for TLR1 gene
Clone Products
- Sino Biological Human cDNA Clone for TLR1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for TLR1
- Applied Biological Materials Clones for TLR1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for TLR1
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | · | 6c | · | 6d | · | 6e | · | 6f |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | |||||||||||||||||||||||||||
| SP5: | - | - | - | - | |||||||||||||||||||||||||||||
| SP6: | - | - | - | ||||||||||||||||||||||||||||||
| SP7: | - | ||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - |
Expression for TLR1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
- Monocytes Peripheral Blood
- Hematopoietic Stem Cells Aorta-Gonad-Mesonephros
- Conventional Dendritic Cells II Spleen
-
Lateral Plate Mesoderm (Gastrulation Derivatives)
- Hematopoietic Stem Cells Aorta-Gonad-Mesonephros
- Spleen (Hematopoietic System)
mRNA differential expression in normal tissues according to GTEx for TLR1 Gene
This gene is overexpressed in Whole Blood (x26.6).
This gene is overexpressed in Monocytes (58.7) and CD8 Tcells (10.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TLR1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of TLR1 Gene:
TLR1SOURCE GeneReport for Unigene cluster for TLR1 Gene:
Hs.654532mRNA Expression by UniProt/SwissProt for TLR1 Gene:
Q15399-TLR1_HUMAN
Tissue specificity:
Ubiquitous. Highly expressed in spleen, ovary, peripheral blood leukocytes, thymus and small intestine.
Evidence on tissue expression from TISSUES for TLR1 Gene
- Blood(4.6)
- Bone marrow(4.4)
- Liver(4.3)
- Nervous system(4.3)
- Spleen(2.9)
- Lymph node(2.7)
- Intestine(2.4)
- Lung(2)
Primer Products
-
OriGene qPCR primer pairs for TLR1
- genomics-online: primer clones - Search results for 136 available TLR1 gene related products
- Overview of 136 available TLR1 gene related products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TLR1 Gene
Orthologs for TLR1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TLR1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | TLR1 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Tlr1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Tlr1 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| chicken (Gallus gallus) |
Aves | TLR1LA 34 |
|
ManyToMany | |
| TLR1LB 34 |
|
ManyToMany | |||
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | tlr1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | tlr1 33 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Toll-9 34 |
|
OneToMany |
- Species where no ortholog for TLR1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- cow (Bos Taurus)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for TLR1 Gene
Paralogs for TLR1 Gene
(3) SIMAP similar genes for TLR1 Gene using alignment to 14 proteins:
Pseudogenes.org Pseudogenes for TLR1 Gene
Variants for TLR1 Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for TLR1 Gene
- TLR1_HUMAN-Q15399
- Genetic variations in TLR1 may influence susceptibility to or protection against contracting leprosy and define the leprosy susceptibility locus 5 [MIM:613223]. Ser-602 is a common allele in Caucasians. It is associated with impaired cell surface expression and receptor function resulting in protection against leprosy.
| SNP ID | Clin | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs4833095 | risk-factor, Leprosy 5 | 38,798,089(-) | T/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs55812771 | benign, Latent Tuberculosis | 38,797,285(-) | A/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs5743618 | protective, Leprosy, protection against | 38,797,027(-) | C/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs773733396 | benign, Latent Tuberculosis | 38,797,418(-) | C/A/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant, stop_gained | |
| rs786201033 | benign, Latent Tuberculosis | 38,798,034(-) | C/T | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3600264 | CNV | loss | 21293372 |
| esv3600265 | CNV | loss | 21293372 |
| esv3893918 | CNV | loss | 25118596 |
| nsv594010 | CNV | loss | 21841781 |
| nsv966262 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
96.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.47;
71.62% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TLR1 Gene
Disorders for TLR1 Gene
(16) MalaCards diseases for TLR1 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| leprosy 5 |
|
|
| lyme disease |
|
|
| melioidosis |
|
|
| penicilliosis |
|
|
| ocular toxoplasmosis |
|
|
Search TLR1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for TLR1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for TLR1 Gene
Publications for TLR1 Gene
- Variants in toll-like receptors 2 and 9 influence susceptibility to pulmonary tuberculosis in Caucasians, African-Americans, and West Africans. (PMID: 19771452) Velez DR … Scott WK (Human genetics 2010) 3 22 44 58
- Gene polymorphisms of Toll-like and related recognition receptors in relation to the vaginal carriage of Gardnerella vaginalis and Atopobium vaginae. (PMID: 19200604) Verstraelen H … Temmerman M (Journal of reproductive immunology 2009) 3 22 44 58
- Polymorphism N248S in the human Toll-like receptor 1 gene is related to leprosy and leprosy reactions. (PMID: 19456232) Schuring RP … Oskam L (The Journal of infectious diseases 2009) 3 4 44 58
- Genetic variation of the human urinary tract innate immune response and asymptomatic bacteriuria in women. (PMID: 20016852) Hawn TR … Hooton TM (PloS one 2009) 3 22 44 58
- Human TLR1 deficiency is associated with impaired mycobacterial signaling and protection from leprosy reversal reaction. (PMID: 18461142) Misch EA … Hawn TR (PLoS neglected tropical diseases 2008) 3 22 44 58
Products for TLR1 Gene
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- Search for Antibodies & Assays
- Sino Biological Human cDNA Clone for TLR1
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- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for TLR1
- Novus Biologicals lysates and proteins for TLR1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for TLR1
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- Abcam assays for TLR1
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- Browse Primary Antibodies
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- Cloud-Clone Corp. Antibodies for TLR1
- Cloud-Clone Corp. Proteins for TLR1
- Cloud-Clone Corp. Assay Kits for TLR1
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for TLR1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- ApexBio compounds for TLR1
- Addgene plasmids for TLR1
- antibodies-online: Search results for 189 available TLR1 Antibodies ranked by validation data
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- Recommended
- 103 WB Antibodies (anti-human)
- 37 FACS Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 8 IHC (p) Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 1 Func Antibody (anti-human)
- 65 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 4 FACS Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 19 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
- 1 FACS Antibody (anti-rat)
- antibodies-online: Search results for 25 available TLR1 Elisa Kits ranked by validation data
- Compare Top TLR1 Elisa Kits
- antibodies-online: Search results for 15 available TLR1 Proteins ranked by validation data
- Compare Top TLR1 Proteins
- GeneTex TLR1 antibody for TLR1
- Search GeneTex for Proteins for TLR1
- ViGene Biosciences adenoviral particle packaged cDNA for TLR1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for TLR1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for TLR1 gene
- Search ViGene Biosciences for TLR1
- Santa Cruz Biotechnology (SCBT) Antibodies for TLR1
- Search Santa Cruz Biotechnology (SCBT) for TLR1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for TLR1
- Custom Antibody ServicesProSci Antibodies for TLR1
- Search for TLR1 Proteins at ProSci
- Horizon Cell Lines for TLR1
- genomics-online: cdna clones - Search results for 136 available TLR1 gene related products
- Overview of 136 available TLR1 gene related products
- orf clones - Search results for 136 available TLR1 gene related products
- Overview of 136 available TLR1 gene related products
- genomics-online: gRNA clones - Search results for 136 available TLR1 gene related products
- Overview of 136 available TLR1 gene related products
- genomics-online: primer clones - Search results for 136 available TLR1 gene related products
- Overview of 136 available TLR1 gene related products
- genomics-online: shRNA clones - Search results for 136 available TLR1 gene related products
- Overview of 136 available TLR1 gene related products
Sources for TLR1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew